Varaico: Literature-Extracted Genetic Variants

ARID2

949 papers

RefSeq Summary

This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulati...

Pfam Domains

ARIDaa 15–101UCSCARID/BRIGHT DNA binding domain

RFX_DNA_bindingaa 521–603UCSCRFX DNA-binding domain

Gene Aliases

HGNC Name

AT-rich interaction domain 2

HGNC Alias Symbols

KIAA1557; DKFZp686G052; FLJ30619; BAF200; SMARCF3; ZIPZAP; p200

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_152641.4

p.D1400H

c.4198G>C

Surrounding Variants

1 paper

NM_152641.4

p.D1400fs

c.4198_4199fs

1 paper

NM_152641.4

p.D1400G

c.4199A>G

1 paper

NM_152641.4

p.D1400V

c.4199A>T

1 paper

NM_152641.4

p.D1400delFs

c.4200delT

2 papers

NM_152641.4

p.L1399*

c.4196T>A

1 paper

NM_152641.4

p.L1399S

c.4196T>C

2 papers

NM_152641.4

p.L1399*

c.4196T>G

1 paper

NM_152641.4

p.L1399delins

c.4196_4197delinsCG

2 papers

NM_152641.4

p.I1401delins

c.4201_4202delinsGC

1 paper

NM_152641.4

p.T1398fs

c.4192_4193fs

2 papers

NM_152641.4

p.Q1403*

c.4207C>T

1 paper

NM_152641.4

p.Q1404*

c.4210C>T